Variant report

Variant	rs115413003
Chromosome Location	chr11:46402749-46402750
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr11:46401880-46403020	PANC-1	pancreas:	n/a	n/a
2	MAX	chr11:46401974-46403135	HepG2	liver:	n/a	n/a
3	CREB1	chr11:46401916-46403009	HepG2	liver:	n/a	n/a
4	TCF12	chr11:46402095-46402765	A549	lung:	n/a	n/a
5	MAZ	chr11:46401885-46404425	K562	blood:	n/a	chr11:46403190-46403200 chr11:46403152-46403162
6	ATF2	chr11:46401888-46402790	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:46399537-46406317	K562	blood:	n/a	n/a
8	EP300	chr11:46402626-46402801	HepG2	liver:	n/a	n/a
9	TCF7L2	chr11:46402066-46405045	HCT-116	colon:	n/a	n/a
10	PBX3	chr11:46401903-46402932	SK-N-SH	brain:	n/a	chr11:46402227-46402247
11	MAZ	chr11:46401942-46402873	GM12878	blood:	n/a	n/a
12	TCF12	chr11:46401934-46403066	ECC-1	luminal epithelium:	n/a	n/a
13	MYC	chr11:46402035-46403912	K562	blood:	n/a	chr11:46403190-46403200 chr11:46403152-46403162
14	ZBTB7A	chr11:46401904-46404027	ECC-1	luminal epithelium:	n/a	chr11:46402740-46402749
15	CHD2	chr11:46402024-46402856	GM12878	blood:	n/a	n/a
16	TAF1	chr11:46401924-46403482	K562	blood:	n/a	n/a
17	SIN3A	chr11:46401828-46404505	H1-hESC	embryonic stem cell:	n/a	chr11:46402190-46402198
18	MAX	chr11:46401961-46404340	MCF-7	breast:	n/a	chr11:46403190-46403200 chr11:46403152-46403162
19	EGR1	chr11:46401926-46402857	HCT-116	colon:	n/a	chr11:46402741-46402751 chr11:46402121-46402131 chr11:46402140-46402153 chr11:46402740-46402753 chr11:46402357-46402367 chr11:46402119-46402132 chr11:46402357-46402366 chr11:46402354-46402367 chr11:46402120-46402131
20	RXRA	chr11:46401975-46402780	SK-N-SH	brain:	n/a	chr11:46402241-46402257 chr11:46402337-46402346
21	PBX3	chr11:46401931-46402830	SK-N-SH	brain:	n/a	chr11:46402227-46402247
22	PML	chr11:46402024-46402817	GM12878	blood:	n/a	n/a
23	MTA3	chr11:46402270-46402760	GM12878	blood:	n/a	n/a
24	UBTF	chr11:46402056-46404061	K562	blood:	n/a	n/a
25	POLR2A	chr11:46401839-46402915	HCT-116	colon:	n/a	n/a
26	POLR2A	chr11:46401890-46403103	HUVEC	blood vessel:	n/a	n/a
27	MAX	chr11:46401827-46403121	K562	blood:	n/a	n/a
28	ELF1	chr11:46401799-46403111	K562	blood:	n/a	chr11:46402775-46402787 chr11:46402913-46402922
29	POLR2A	chr11:46401877-46405177	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:46401871-46404230	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr11:46402224-46402993	GM12878	blood:	n/a	n/a
32	EP300	chr11:46401970-46402758	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr11:46402128-46402888	ECC-1	luminal epithelium:	n/a	n/a
34	FOXP2	chr11:46402116-46402874	PFSK-1	brain:	n/a	n/a
35	ELF1	chr11:46401615-46403001	GM12878	blood:	n/a	chr11:46402775-46402787 chr11:46402913-46402922
36	SMARCB1	chr11:46401928-46402775	Hela-S3	cervix:	n/a	n/a
37	BACH1	chr11:46402342-46402912	H1-hESC	embryonic stem cell:	n/a	n/a
38	MXI1	chr11:46401930-46402832	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:46401734-46406543	K562	blood:	n/a	n/a
40	POLR2A	chr11:46402054-46404309	K562	blood:	n/a	n/a
41	POLR2A	chr11:46399869-46402753	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr11:46401868-46402964	HCT-116	colon:	n/a	n/a
43	POLR2A	chr11:46401844-46403143	K562	blood:	n/a	n/a
44	POLR2A	chr11:46401938-46404353	K562	blood:	n/a	n/a
45	STAT5A	chr11:46402230-46402836	GM12878	blood:	n/a	chr11:46402337-46402348 chr11:46402350-46402362
46	POLR2A	chr11:46401956-46402933	SK-N-MC	brain:	n/a	n/a
47	MAZ	chr11:46401754-46405303	IMR90	lung:	n/a	chr11:46403190-46403200 chr11:46403152-46403162
48	POLR2A	chr11:46401561-46404028	HUVEC	blood vessel:	n/a	n/a
49	MTA3	chr11:46401960-46402836	GM12878	blood:	n/a	n/a
50	CTBP2	chr11:46401904-46402847	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46401836..46403864-chr11:46637074..46639458,2	K562	blood:
2	chr11:46368921..46370887-chr11:46401609..46403776,2	MCF-7	breast:
3	chr11:46401780..46403457-chr11:47290200..47292891,2	MCF-7	breast:
4	chr11:46402485..46405164-chr11:46638326..46640546,2	MCF-7	breast:
5	chr11:46382914..46384504-chr11:46401158..46403727,3	MCF-7	breast:
6	chr11:46368689..46375486-chr11:46400770..46406098,12	K562	blood:
7	chr11:46387947..46390422-chr11:46401426..46404815,4	MCF-7	breast:
8	chr11:46393877..46398500-chr11:46401419..46405642,6	MCF-7	breast:
9	chr11:46256874..46260563-chr11:46399060..46405748,9	K562	blood:
10	chr11:46141914..46143962-chr11:46401995..46404790,2	K562	blood:
11	chr11:46401089..46404766-chr11:46549861..46553085,3	K562	blood:
12	chr11:46391583..46394850-chr11:46399666..46402869,4	MCF-7	breast:
13	chr11:46399063..46400618-chr11:46400770..46402809,2	MCF-7	breast:

Variant related genes	Relation type
MDK	TF binding region
ENSG00000264102	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000175224	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000180423	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000110497	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897318	chr11:46388220-46417815	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv897319	chr11:46396479-46417815	Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv554203	chr11:46399538-46406497	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv309	chr11:46399678-46440503	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv897320	chr11:46399901-46417815	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv3359255	chr11:46401901-46404749	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
13	esv3407445	chr11:46402151-46404424	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46400600-46402800	Enhancers	Fetal Heart	heart
2	chr11:46400800-46404400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:46401200-46404200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:46401200-46404200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:46401200-46404400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:46401200-46404400	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr11:46401400-46404000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:46401400-46404200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:46401400-46404200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:46401400-46404400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr11:46401400-46404400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:46401400-46404400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:46401400-46404400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:46401600-46404000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:46401600-46404200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:46401600-46404200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:46401600-46404200	Active TSS	Fetal Intestine Large	intestine
18	chr11:46401800-46402800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:46401800-46402800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr11:46401800-46403000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr11:46401800-46403400	Active TSS	Primary B cells from peripheral blood	blood
22	chr11:46401800-46403600	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:46401800-46403800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr11:46401800-46403800	Active TSS	K562	blood
25	chr11:46401800-46404000	Active TSS	Osteobl	bone
26	chr11:46402000-46402800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:46402000-46402800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:46402000-46402800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:46402000-46402800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr11:46402000-46402800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:46402000-46402800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:46402000-46402800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:46402000-46402800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:46402000-46402800	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr11:46402000-46402800	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr11:46402000-46402800	Flanking Active TSS	Placenta	Placenta
37	chr11:46402000-46402800	Flanking Active TSS	GM12878-XiMat	blood
38	chr11:46402000-46403000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:46402000-46403000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr11:46402000-46403000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr11:46402000-46403000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:46402000-46403000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:46402000-46403000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:46402000-46403000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr11:46402000-46403400	Active TSS	Primary T cells from cord blood	blood
46	chr11:46402000-46403400	Active TSS	Brain Cingulate Gyrus	brain
47	chr11:46402000-46403400	Active TSS	Fetal Stomach	stomach
48	chr11:46402000-46403400	Active TSS	Pancreas	Pancrea
49	chr11:46402000-46403400	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr11:46402000-46403400	Active TSS	Right Ventricle	heart

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